Canonical Allele Identifier: CA384677533

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416405C>G (hg19) ; chr12:g.49022622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022622C>G , CM000674.2:g.49022622C>G	GRCh38
NC_000012.11:g.49416405C>G , CM000674.1:g.49416405C>G	GRCh37
NC_000012.10:g.47702672C>G	NCBI36
NG_027827.1:g.37703G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.276G>C
ENST00000681974.1:n.978G>C
ENST00000682693.1:n.1940G>C
ENST00000682886.1:n.476G>C
ENST00000683543.2:c.16354G>C	ENSP00000506726.1:p.Ala5452Pro
ENST00000683988.1:c.277G>C	ENSP00000506939.1:p.Ala93Pro
ENST00000684428.1:c.841G>C	ENSP00000507433.1:p.Ala281Pro
ENST00000684755.1:n.889G>C
ENST00000685024.1:c.1460G>C
ENST00000685166.1:c.16315G>C	ENSP00000509386.1:p.Ala5439Pro
ENST00000688411.1:c.783G>C	ENSP00000510146.1:n.783G>C
ENST00000691932.1:c.307G>C	ENSP00000509037.1:p.Ala103Pro
ENST00000692637.1:c.16303G>C	ENSP00000509666.1:p.Ala5435Pro
ENST00000301067.12:c.16306G>C MANE Select	ENSP00000301067.7:p.Ala5436Pro
ENST00000301067.11:c.16306G>C	ENSP00000301067.7:p.Ala5436Pro
ENST00000526209.1:c.349G>C	ENSP00000435714.1:p.Ala117Pro
NM_003482.3:c.16306G>C	NP_003473.3:p.Ala5436Pro
XM_005269162.3:c.16306G>C	XP_005269219.1:p.Ala5436Pro
XM_006719614.2:c.16315G>C	XP_006719677.1:p.Ala5439Pro
XM_006719616.2:c.16303G>C	XP_006719679.1:p.Ala5435Pro
XM_011538770.1:c.16363G>C	XP_011537072.1:p.Ala5455Pro
XM_011538771.1:c.16360G>C	XP_011537073.1:p.Ala5454Pro
XM_011538772.1:c.16354G>C	XP_011537074.1:p.Ala5452Pro
XM_011538773.1:c.16351G>C	XP_011537075.1:p.Ala5451Pro
XM_011538774.1:c.16342G>C	XP_011537076.1:p.Ala5448Pro
XM_011538775.1:c.16297G>C	XP_011537077.1:p.Ala5433Pro
XM_011538776.1:c.16270G>C	XP_011537078.1:p.Ala5424Pro
XM_005269162.4:c.16306G>C	XP_005269219.1:p.Ala5436Pro
XM_006719614.4:c.16315G>C	XP_006719677.1:p.Ala5439Pro
XM_006719616.3:c.16303G>C	XP_006719679.1:p.Ala5435Pro
XM_011538770.2:c.16363G>C	XP_011537072.1:p.Ala5455Pro
XM_011538771.2:c.16360G>C	XP_011537073.1:p.Ala5454Pro
XM_011538772.2:c.16354G>C	XP_011537074.1:p.Ala5452Pro
XM_011538773.2:c.16351G>C	XP_011537075.1:p.Ala5451Pro
XM_011538774.2:c.16342G>C	XP_011537076.1:p.Ala5448Pro
XM_011538776.2:c.16270G>C	XP_011537078.1:p.Ala5424Pro
XR_001748874.1:n.16483G>C
NM_003482.4:c.16306G>C MANE Select	NP_003473.3:p.Ala5436Pro